Variant Results

or

Results for "PTPRS"

Variant Events: 40

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

PTPRS

2-0299-003

chr19:
5209637-5209638

AC

TG

intronic

De novo

-

Trost2022 G

PTPRS

2-1715-004

chr19:
5410359-5410359

C

T

intergenic

De novo

-

Yuen2017 G

PTPRS

SP0023236

chr19:
5260878-5260878

T

G

intronic

De novo

-

Trost2022 G

PTPRS

SP0023236

Complex Event; expand row to view variants

De novo

-

0.0014

Trost2022 G
Trost2022 G

PTPRS

MSSNG00196-003

chr19:
5250495-5250495

C

T

intronic

De novo

-

Trost2022 G

PTPRS

AU066404

chr19:
5252627-5252642

ACACCTGTAATCCCAG

A

intronic

De novo

-

Trost2022 G

PTPRS

AU0146302

chr19:
5316426-5316426

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRS

1-0803-003

chr19:
5224997-5224997

C

T

intronic

De novo

-

Trost2022 G

PTPRS

SJD_52.3

chr19:
5227517-5227517

C

T

intronic

De novo

-

Trost2022 G

PTPRS

AU004403

chr19:
5216686-5216686

G

A

intronic

De novo

-

Trost2022 G

PTPRS

SP0140028

chr19:
5223286-5223286

C

T

exonic

De novo

synonymous SNV

NM_130854
NM_002850

c.G2451A
c.G2517A

p.S817S
p.S839S

-

0.0013

Trost2022 G

PTPRS

10C104604

chr19:
5215447-5215447

G

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PTPRS

12603.p1

chr19:
5225807-5225807

C

A

exonic

De novo

nonsynonymous SNV

NM_130854
NM_002850

c.G2359T
c.G2425T

p.V787L
p.V809L

18.56

-

Ji2016 E
Krumm2015 E

PTPRS

SJD_71.3

chr19:
5331579-5331579

G

A

intronic

De novo

-

Trost2022 G

PTPRS

SP0204059

chr19:
5265077-5265077

C

T

exonic

De novo

synonymous SNV

NM_002850
NM_130853
NM_130854
NM_130855

c.G510A
c.G510A
c.G510A
c.G510A

p.K170K
p.K170K
p.K170K
p.K170K

-

Trost2022 G

PTPRS

5-5046-004

chr19:
5313588-5313592

CCCTA

C

intronic

De novo

-

Trost2022 G

PTPRS

SP0117452

chr19:
5244079-5244079

G

A

exonic

De novo

nonsynonymous SNV

NM_130853
NM_130854
NM_130855
NM_002850

c.C1364T
c.C1364T
c.C1376T
c.C1403T

p.P455L
p.P455L
p.P459L
p.P468L

14.62

-

Fu2022 E
Zhou2022 GE

PTPRS

SP0078765

chr19:
5212262-5212262

C

G

splicing

De novo

splicing

15.44

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PTPRS

Lim2017:37379

chr19:
5218803-5218803

G

A

exonic

De novo

synonymous SNV

NM_130853
NM_130855
NM_130854
NM_002850

c.C2637T
c.C2649T
c.C3864T
c.C3930T

p.P879P
p.P883P
p.P1288P
p.P1310P

-

5.076E-5

Lim2017 E

PTPRS

SP0068071

chr19:
5240352-5240352

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

PTPRS

12335.p1

chr19:
5216793-5216793

C

CA

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PTPRS

SP0092742

chr19:
5238864-5238864

G

A

intronic

De novo

-

Fu2022 E

PTPRS

14520.p1

chr19:
5218803-5218803

G

A

exonic

De novo

synonymous SNV

NM_130853
NM_130855
NM_130854
NM_002850

c.C2637T
c.C2649T
c.C3864T
c.C3930T

p.P879P
p.P883P
p.P1288P
p.P1310P

-

5.076E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PTPRS

AU3761302

chr19:
5299319-5299319

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRS

1912_15au

chr19:
5220118-5220118

C

T

exonic

De novo

synonymous SNV

NM_130853
NM_130855
NM_130854
NM_002850

c.G2304A
c.G2316A
c.G3531A
c.G3597A

p.S768S
p.S772S
p.S1177S
p.S1199S

-

2.523E-5

Fu2022 E

PTPRS

SP0087266

chr19:
5258121-5258121

T

C

exonic

De novo

nonsynonymous SNV

NM_130853
NM_130854
NM_130855
NM_002850

c.A586G
c.A586G
c.A586G
c.A613G

p.S196G
p.S196G
p.S196G
p.S205G

14.24

-

Fu2022 E
Zhou2022 GE

PTPRS

37379

chr19:
5218803-5218803

G

A

exonic

De novo

synonymous SNV

NM_130853
NM_130855
NM_130854
NM_002850

c.C2637T
c.C2649T
c.C3864T
c.C3930T

p.P879P
p.P883P
p.P1288P
p.P1310P

-

5.076E-5

Fu2022 E
Trost2022 G

PTPRS

SP0007976

chr19:
5214666-5214666

G

A

exonic

De novo

nonsynonymous SNV

NM_130853
NM_130855
NM_130854
NM_002850

c.C3059T
c.C3071T
c.C4286T
c.C4400T

p.P1020L
p.P1024L
p.P1429L
p.P1467L

24.4

2.524E-5

Fu2022 E
Zhou2022 GE

PTPRS

SP0142081

chr19:
5229447-5229447

A

T

intronic

De novo

-

Fu2022 E

PTPRS

SP0133996

chr19:
5222927-5222927

T

C

exonic

nonsynonymous SNV

NM_130854
NM_002850

c.A2810G
c.A2876G

p.N937S
p.N959S

20.5

-

Zhou2022 GE

PTPRS

EGAN00001101018

chr19:
5220977-5220977

T

G

intronic

De novo

-

9.0E-4

Satterstrom2020 E
Trost2022 G

PTPRS

SP0029987

chr19:
5208235-5208239

CGAGG

C

intronic

De novo

-

Fu2022 E
Trost2022 G

PTPRS

SP0196018

chr19:
5208316-5208316

G

T

exonic

nonsynonymous SNV

NM_130853
NM_130855
NM_130854
NM_002850

c.C4233A
c.C4245A
c.C5460A
c.C5574A

p.D1411E
p.D1415E
p.D1820E
p.D1858E

10.67

-

Zhou2022 GE

PTPRS

2-1619-004

chr19:
5313733-5313733

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRS

2-1718-003

chr19:
5284831-5284831

C

T

intronic

De novo

-

Yuen2017 G

PTPRS

2-0310-003

chr19:
5244975-5244975

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRS

2-0022-005

chr19:
5290066-5290066

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PTPRS

08C74840

chr19:
5215293-5215293

G

A

intronic

De novo

-

7.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PTPRS

1-1000-003

chr19:
5362342-5362342

G

A

intergenic

De novo

-

Yuen2017 G

PTPRS

AU075703

chr19:
5313283-5313283

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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